Potocki-Lupski syndrome

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Potocki-Lupski syndrome2016-11-27T20:16:56+00:00

Potocki-Lupski syndrome

GENETICS

Definition An über rare disorder (OMIM:610883) that arises sporadically, which is characterised by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, and congenital anomalies. PTLS, a putative gene held responsible for Potocki-Lupski syndrome, has been localised to cytogenetic band 17p11.2.

Synonym Chromosome 17p11.2 duplication syndrome

Reference http://omim.org/entry/610883

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